{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T05:15:45Z","timestamp":1789881345107,"version":"4.0.1"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,29]],"date-time":"2009-01-29T00:00:00Z","timestamp":1233187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Blau syndrome is a rare, autosomal\u2010dominant, autoinflammatory disorder characterized by granulomatous arthritis, uveitis, and dermatitis. Genetics studies have shown that the disease is caused by single nonsynonymous substitutions in NOD\u20102, a member of the NOD\u2010like receptor or NACHT\u2013leucine\u2010rich repeat (NLR) family of intracellular proteins. Several NLRs function in the innate immune system as sensors of pathogen components and participate in immune\u2010mediated cellular responses via the caspase 1 inflammasome. Mutations in a gene related to NOD\u20102, <jats:italic>NLRP3<\/jats:italic>, are responsible for excess caspase 1\u2013dependent interleukin\u20101\u03b2 (IL\u20101\u03b2) in cryopyrinopathies such as Muckle\u2010Wells syndrome. Furthermore, functional studies demonstrate that caspase 1\u2013mediated release of IL\u20101\u03b2 also involves NOD\u20102. The aim of this study was to test the hypothesis that IL\u20101\u03b2 may mediate the inflammation seen in patients with Blau syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>IL\u20101\u03b2 release was measured in peripheral blood mononuclear cells cultured in vitro, obtained from 5 Blau syndrome individuals with a <jats:italic>NOD2<\/jats:italic> (<jats:italic>CARD15<\/jats:italic>) mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We observed no evidence for increased IL\u20101\u03b2 production in cells obtained from subjects with Blau syndrome compared with healthy control subjects. Furthermore, we presented 2 cases of Blau syndrome in which recombinant human IL\u20101 receptor antagonist (anakinra) was ineffective treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Taken together, these data suggest that in contrast to related IL\u20101\u03b2\u2013dependent autoinflammatory cryopyrinopathies, Blau syndrome is not mediated by excess IL\u20101\u03b2 or other IL\u20101 activity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.24222","type":"journal-article","created":{"date-parts":[[2009,1,29]],"date-time":"2009-01-29T06:30:47Z","timestamp":1233210647000},"page":"611-618","source":"Crossref","is-referenced-by-count":92,"title":["The <i>NOD2<\/i> defect in Blau syndrome does not result in excess interleukin\u20101 activity"],"prefix":"10.1002","volume":"60","author":[{"given":"Tammy 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